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ALL / Rheumatology

Osteogenesis imperfecta

Osteogenesis imperfecta

Osteogenesis imperfecta (more commonly known as brittle bone disease) is a group of disorders of collagen metabolism resulting in bone fragility and fractures. The most common, and milder, form of osteogenesis imperfecta is type 1

Overview
  • autosomal dominant
  • abnormality in type 1 collagen due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides

Features
  • presents in childhood
  • fractures following minor trauma
  • blue sclera
  • deafness secondary to otosclerosis
  • dental imperfections are common

Investigations
  • adjusted calcium, phosphate, parathyroid hormone and ALP results are usually normal in osteogenesis imperfecta
+PassMedicine Notes

Osteogenesis imperfecta (more commonly known as brittle bone disease) is a group of disorders of collagen metabolism resulting in bone fragility and fractures. The most common, and milder, form of osteogenesis imperfecta is type 1

Overview
  • autosomal dominant
  • abnormality in type 1 collagen due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides
Features
  • presents in childhood
  • fractures following minor trauma
  • blue sclera
  • deafness secondary to otosclerosis
  • dental imperfections are common
Investigations
  • adjusted calcium, phosphate, parathyroid hormone and ALP results are usually normal in osteogenesis imperfecta


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